Case files 3 Flashcards
2 big signs of DMD
Waddling gait and progressive proximal muscle weakness (pushes off floor to stand up –> Gower sign)
2 initial DMD tests
Serum CK (elevated from muscle destruction)
DNA analysis of blood
Serum CK can also be elevated in females who are carriers
When does DMD begin to act
3-5 years, normal before that
Wheelchair dependent by 10-13 years
All DMD patients have some degree of? What is often the cause of death?
Cardiomyopathy
Respiratory failure is often the cause of death
Atopic dermatitis features
Pruritic, recurrent, and flexural in older children and symmetrical in adults
3 waves of AD
Infant: 12 - near onset of puberty
Seborrheic dermatitis limited to? Tx?
Areas of the skin with high concentrations of sebaceous glands (cradle cap)
Tx is ketoconazole
Brown and not weepy like AD
Why are fluorinated steroids avoided on face
May depigment and thin the skin
Kid with hives likely etiology
Recent antibiotic use
Cutaneous herpes simplex in infants likely found in
Areas or recently healed or active atopic dermatitis
Thrombocytopenia, Immunodef, and eczema
Wiskott-Aldrich
look for infections and bleeding in first six months of life
Baseline therapy for atopic dermatitis
Avoidance of drying soaps and replenishment of skin hydration with emollients
steroids may be added
Paraneoplastic syndrome related to
tumor production of catecholamines and VIP
What is a neuroblastoma made of? Where does it met?
Primitive neuroendocrine tissue
Mets to long bones, skull, lymph nodes, liver, and skin
Blueish skin in neuroblastoma in infant represents? Other major sign
Subcutaneous infiltration
**Raccoon eyes: proptosis and bluish periorbital discoloration
Wilms tumor features
Hematuria, hypertension, and localized abdominal mass that RARELY crosses the midline (unlike neuroblastoma - generally younger and sicker)
Neuroblastoma labs
Elevated VMA and HVA levels
Palpable abdominal mass in newborn likely
Hydrfonephrotic or multi cystic dysplastic kidney –> US for workup and dx
In baby intestinal obstruction (bilious vomiting), distention, blood per rectum and lethargy likely? Next step?
Malrotation with volvulus
Call surgery to remove necrotic bowel and reperfuse
Most common site for intussesception
Ileocolic portion of bowel
Ligament of treitz attaches to right side instead of normal left
Electrolyte levels in hypertrophic pyloric stenosis
hypochloremic metabolic alkalosis
What distinguishes NEC from malrotation
Pneumatosis intestinal (air in wall of the small bowel)
Current jelly stools in kid
Intussusception
Most common cause of severe urinary tract obstruction in boys? Workup?
Posterior urethral valves
Workup: Voiding cystourethrogram or USG and bladder cath, surgery after stabilization
Test for any young male(
Anatomic workup
PUV risks
25%-30% risk of ESRD
Injury when child pulled by arm and holds arm close to body with elbow in flexed position? what else will child do
Subluxation of the radial head (occurs when sudden traction on extended arm)
Child will also resist passive movement of the arm
How will child hold arm in subluxation of the radial head? PE?
Will hold the affected arm close to their body with the elbow flexed and forearm pronated
Absence of bony tenderness and swelling on exam
Tx for subluxation of the radial head
Supinating the child’s forearm with the elbow in flexed position while applying pressure over the radial head
If not successful after 2-3 tries, XRAY
First steps to examen suspected physical abuse
H&P and skeletal survey (to asses new and old injuries)
If further questions remain - call CPS
TTP pentad
Fever, microangiopathic hemolytic anemia, abnormal renal function, CNS changes
Most common thrombocytopenia in an otherwise well child usually aged 2-4 years? From what
ITP
Probs immunologic etiology triggered by a preceding viral inlines with following autoantibody development.
ITP bone marrow exam? Most serous ITP complication
Shows increased number of megakaryoctes
Most serious complication is intracranial hemorrhages (
Vaccine to use cautiously in ITP patients
MMR (known to cause thrombocytopenia)
First steps in suspected ITP
Physical exam and blood smear
Peripheral smear of HUS shows
Helmet cells, Burr cells, and fragmented RBCs
Long bone fracture that is ass with inflicted injury
“Bucket handle fracture” or classic metaphysical lesion and spongiosa region of the ends of long bones, looks like bone fragments
Fundoscopic exam for shaken baby syndrome may show
Retinal hemorrhages
Most common form of child abuse
Neglect
Bruise areas less likely to be accidental trauma
Abdomen, face, neck, butt, thighs, inner arm
How do intentional hot water burns usually look
Sharply demarcated border or “stocking glove” distribution
OI mutation
COL1A1 or A2 of type 1 collagen
Kawasaki other name
Mucocutaneous lymph node syndrome
“Classic” Kawasaki’s
5 day son fever and 4 of: Bi conjunctivitis, oral involvement/erythema, generalized rash, edema of extremities/redness, cervical lymphadenopathy
Labs of Kawasaki’s? tx?
Elevated ESR and CRP, normocytic anemia, leukocytosis, thrombocytosis
High does aspirin and IVIG
Scarlett fever rash
Sandpaper like with streaks of linear petechiae on flexural areas
Who do you call for suspected Kawasaki’s
Cardiology
HIV mom has what chance to pass to infant if no therapy
25%
HIV test for patients under 18 months
HIV DNA PCR testing (two assays on two separate occasions)
HIV ppx for babies if no AZT given during pregnancy
Nevirapine
Leukocyte adhesion def findings
Recurring sinopulmonary, oropharyngeal, and cutaneous infections with delayed wound healing
When do klinefelter’s patients often get diagnosed? Should be considered for what folks
Puberty - from subtleness of clinical findings
For all boys who have been identified with ID, psychosocial, school, or adjustment problems
XYY male findings
Explosive tempers, long and asymmetrical ears, increased length for hands and feet
Mild pectus excavatum
Fragile X findings
Males with ID and macrocephaly, long face, high arched palate, large ears, and macroorchidism after puberty
First two steps in DKA
IV fluids and IV insulin administration
How do you measure true serum Na in DKA
Add 1.6 mEq/L for every 100 mg/DdL of serum glucose above the normal range
Hyponatremia seen can be dilutional from increased serum glucose
When to give dextrose in DKA
When serum glucose drops to 250-300 range to prevent inadvertent hypoglycemia
Biggest complication of DKA
Cerebral edema
Why do you continue insulin in DKA when hyperglycemia is corrected
Hyperglycemia gets corrected sooner than acidosis, continue insulin until gap is closed
OSA risk factor for what CV issues? Theory why?
Left and right ventricular hypertrophy and elevated BP
Possible up regulation of inflammatory markers (elevated CRP)
What is primary snoring
Snoring without associated respiratory disturbances
Most common cause of younger kids OSA? older?
Adenotonsillar hypertrophy, obesity in older
What is seen in adult OSA but not as much in kids
Excessive daytime sleepiness
Growth rate in first year of life
23-28 cm a year
Common cause of short stature
Constitutional growth delay - “bone age = height age” or normal growth rate, just short
One parent had late onset puberty
GH def features
Growth just drops off, boys appear chubby (weight continues normally)
What does true precocious puberty stem from? Ages seen?
Secretion of hypothalamic GnRH with normal but early appearing progression of pubertal events
Before 8 in girls and 9 in boys
Major cause of precocious puberty in boys? Girls?
Structural CNS abnormality in 25-75% of boys
Idiopathic in 90% of girls
Goal of treating precocious puberty
To prevent premature closure of the epiphysis, allowing the child to reach full adult growth potential
Drug for precocious puberty
GnRH agonists (best in rapidly progressing central precocious puberty)
